has material basis in germline mutation in SLC25A1 D,L-2-hydroxyglutaric aciduria https://www.malacards.org/card/combined_d_2_and_l_2_hydroxyglutaric_aciduria GARD:0017540 OMIM:615182 UMLS:C5574940 D,L-2-hydroxyglutaric acidemia MEDGEN:1802316 combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria ICD9:270.8 D,L-2-HGA D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites. Orphanet:356978 SCTID:713401006 combined D-2- and L-2-hydroxyglutaric aciduria D2L2AD DOID:0111619 D,L-2-hydroxyglutaric aciduria MONDO:0014072 combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia 2-hydroxyglutaric aciduria